ClinVar

NM_005660.3(SLC35A2):c.1128C>T (p.His376=)

Gene:

SLC35A2:solute carrier family 35 member A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

• ChrX: 48904781 (on Assembly GRCh38)
• ChrX: 48762058 (on Assembly GRCh37)

Preferred name:

NM_005660.3(SLC35A2):c.1128C>T (p.His376=)

HGVS:

• NC_000023.11:g.48904781G>A
• NG_015967.1:g.11864G>A
• NG_015967.2:g.11853G>A
• NG_034300.1:g.12178C>T
• NM_001032289.3:c.538C>T
• NM_001042498.3:c.1128C>T
• NM_001282647.2:c.538C>T
• NM_001282648.2:c.466C>T
• NM_001282649.2:c.945C>T
• NM_001282650.2:c.1167C>T
• NM_001282651.2:c.1212C>T
• NM_005660.3:c.1128C>TMANE SELECT
• NP_001027460.1:p.Pro180Ser
• NP_001035963.1:p.His376=
• NP_001269576.1:p.Pro180Ser
• NP_001269577.1:p.Pro156Ser
• NP_001269578.1:p.His315=
• NP_001269579.1:p.His389=
• NP_001269580.1:p.His404=
• NP_005651.1:p.His376=
• NC_000023.10:g.48762058G>A

This HGVS expression did not pass validation

Protein change:

P156S

Molecular consequence:

• NM_001032289.3:c.538C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282647.2:c.538C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282648.2:c.466C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042498.3:c.1128C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282649.2:c.945C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282650.2:c.1167C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282651.2:c.1212C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005660.3:c.1128C>T - synonymous variant - [Sequence Ontology: SO:0001819]